INVESTIGATIONS ON CLINICAL VALIDATION OF MUTATED ZNF208 AS A NOVEL BIOMARKER OF BLAST CRISIS IN CHRONIC MYELOID LEUKEMIA
Main Article Content
Keywords
Chronic Myeloid Leukemia, Accelerated phase; Blast crisis, Disease Progression, Molecular Biomarker, Transcription Factors, Zing Finger Proteins Cancer
Abstract
BCR-ABL1, the hallmark of cancer, promotes genomic instability leading to further mutation acquisition in CML. This transforms the manageable Chronic Phase (CP-CML) into an accelerated phase (AP-CML) and fatal crisis phase (BC-CML). Highly specific biomarkers for early detection of BC-CML are lacking. Transcription factor (TF) mutations universally cause cancer progression, relapses, and metastasis. Recently, ZNF208 TF was reported mutated in BC-CML but its reproducibility and clinical validation were required. Current studies utilized next-generation sequencing to validate mutated ZNF208 (c.64G>A) as a novel CML progression biomarker as it was detected in 0 (0%), 90% (10/20), and 100% (12/12) CP-, AP-, and BC-CML patients (p=0.0001), suggesting its high disease specificity. We recommend prospective clinical trials to further validate this novel CML progression biomarker.
Keywords: Chronic Myeloid Leukemia; Accelerated phase; Blast crisis; Disease Progression; Molecular Biomarker; Transcription Factors; Zing Finger Proteins; Cancer.
References
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9. Bushweller JH. Targeting transcription factors in cancer - from undruggable to reality. Nat Rev Cancer. 2019;19(11):611-624. doi:10.1038/s41568-019-0196-7
10. Mologni L, Piazza R, Khandelwal P, Pirola A, Gambacorti-Passerini C. Somatic mutations identified at diagnosis by exome sequencing can predict response to imatinib in chronic phase chronic myeloid leukemia (CML) patients. Am J Hematol. 2017;92
11. Hochhaus A, Baccarani M, Silver RT, et al. European LeukemiaNet 2020 recommendations for treating chronic myeloid leukemia. Leukemia. 2020;34(4):966-984. doi:10.1038/s41375-020-0776-2
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14. Cagnetta A, Garuti A, Marani C, et al. Evaluating treatment response of chronic myeloid leukemia: emerging science and technology. Curr Cancer Drug Targets. 2013;13(7):779-790. doi:10.2174/15680096113139990084
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16. Mahon FX, Etienne G. Deep molecular response in chronic myeloid leukemia: the new goal of therapy?. Clin Cancer Res. 2014;20(2):310-322. doi:10.1158/1078-0432.CCR-13-1988
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19. Abdulla MAJ, Chandra P, Akiki SE, Aldapt MB, Sardar S, Chapra A, Nashwan AJ, Sorio C, Tomasello L, Boni C, Yassin MA. Clinicopathological Variables and Outcome in Chronic Myeloid Leukemia Associated With BCR-ABL1 Transcript Type and Body Weight: An Outcome of European LeukemiaNet Project. Cancer Control. 2021 Jan-Dec;28:10732748211038429. doi: 10.1177/10732748211038429. PMID: 34789006; PMCID: PMC8619745.
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21. Ip SC, Lin SW, Lai KM. An evaluation of the performance of five extraction methods: Chelex® 100, QIAamp® DNA Blood Mini Kit, QIAamp® DNA Investigator Kit, QIAsymphony® DNA Investigator® Kit and DNA IQ™. Sci Justice. 2015;55(3):200-208. doi:10.1016/j.scijus.2015.01.005
22. AlAsiri S, Basit S, Wood-Trageser MA, et al. Exome sequencing reveals MCM8 mutation underlies ovarian failure and chromosomal instability. J Clin Invest. 2015;125(1):258-262. doi:10.1172/JCI78473
23. Gnirke A, Melnikov A, Maguire J, et al. Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing. Nat Biotechnol. 2009;27(2):182-189. doi:10.1038/nbt.1523
24. Retterer K, Juusola J, Cho MT, et al. Clinical application of whole-exome sequencing across clinical indications. Genet Med. 2016;18(7):696-704. doi:10.1038/gim.2015.148
25. Carson AR, Smith EN, Matsui H, et al. Effective filtering strategies to improve data quality from population-based whole exome sequencing studies. BMC Bioinformatics. 2014;15:125. Published 2014 May 2. doi:10.1186/1471-2105-15-125
26. Branford S, Wang P, Yeung DT, et al. Integrative genomic analysis reveals cancer-associated mutations at diagnosis of CML in patients with high-risk disease. Blood. 2018;132(9):948-961. doi:10.1182/blood-2018-02-832253
27. Xu J, Wu M, Sun Y, Zhao H, Wang Y, Gao J. Identifying Dysregulated lncRNA-Associated ceRNA Network Biomarkers in CML Based on Dynamical Network Biomarkers. Biomed Res Int. 2020;2020:5189549. Published 2020 Feb 18. doi:10.1155/2020/5189549
28. Tsiatis AC, Norris-Kirby A, Rich RG, et al. Comparison of Sanger sequencing, pyrosequencing, and melting curve analysis for the detection of KRAS mutations: diagnostic and clinical implications. J Mol Diagn. 2010;12(4):425-432. doi:10.2353/jmoldx.2010.090188
29. Beck TF, Mullikin JC; NISC Comparative Sequencing Program, Biesecker LG. Systematic Evaluation of Sanger Validation of Next-Generation Sequencing Variants. Clin Chem. 2016;62(4):647-654. doi:10.1373/clinchem.2015.249623
30. Diaz-Horta O, Duman D, Foster J 2nd, et al. Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss. PLoS One. 2012;7(11):e50628. doi:10.1371/journal.pone.0050628
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34. Sokal JE, Cox EB, Baccarani M, et al. Prognostic discrimination in "good-risk" chronic granulocytic leukemia. Blood. 1984;63(4):789-799.
35. Kuntegowdanahalli LC, Kanakasetty GB, Thanky AH, et al. Prognostic and predictive implications of Sokal, Euro and EUTOS scores in chronic myeloid leukaemia in the imatinib era-experience from a tertiary oncology centre in Southern India. Ecancermedicalscience. 2016;10:679. Published 2016 Oct 6. doi:10.3332/ecancer.2016.679
36. Amaravadi RK, et al. Best practices for the development and fit-for-purpose validation of biomarker methods. AAPS Open. 2019;5(1):1-15. doi:10.1186/s41120-019-0024-2
37. Oh et al. 2020. Development of an aptamer-based procalcitonin (PCT) detection platform for sepsis diagnosis. Molecular & Cellular Toxicology, 2020
38. Has-miR-146a polymorphism (rs2910164) and cancer risk: a meta-analysis. Springer, 2019
39. Wyllie AL, et al. Saliva or nasopharyngeal swab specimens for detection of SARS-CoV-2. N Engl J Med. 2020;383(13):1283-1286.
40. Morris TJ, Butcher LM, Feber A, et al. ChAMP: 450k Chip Analysis Methylation Pipeline. Bioinformatics. 2014;30(3):428-430. doi:10.1093/bioinformatics/btt684.
41. Musunuru et al. Genetic Testing for Inherited Cardiovascular Diseases: Scientific Statement from the American Heart Association. Circ Genom Precis Med. 2020;13
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Sep 20, 2024
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INVESTIGATIONS ON CLINICAL VALIDATION OF MUTATED ZNF208 AS A NOVEL BIOMARKER OF BLAST CRISIS IN CHRONIC MYELOID LEUKEMIA. (2024). Journal of Population Therapeutics and Clinical Pharmacology, 31(9), 1502-1518. https://doi.org/10.53555/68zhqm37
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Author Biographies
Nawaf Alanazi
Division of Hematology/Oncology, Department of Pediatrics, King Abdulaziz Hospital, Al-Ahsa.
, Ameer Mahmood
College of Applied Medical Sciences (CoAMS), King Saud Bin Abdulaziz University for Health Sciences, Al-Ahsa.
Abdulkareem Al-Garni
Division of Hematology/Oncology, Department of Pediatrics, King Abdulaziz Hospital, Al-Ahsa.
Arbila Umrani
Stem Cell Unit, department of Anatomy, College of Medicine, King Saud University, Riyadh
Abdulaziz Haji Siyal
Centre for Genetics and Inherited Diseases, Taiba University, Madina.
Salman Basit
Centre for Genetics and Inherited Diseases, Taiba University, Madina.
Sameera Shaheen
Stem Cell Unit, department of Anatomy, College of Medicine, King Saud University, Riyadh.
Masood Shammas
Dana Farbar Cancer Institute, University of Harvard, Boston USA
Sarah AlMukhaylid
Clinical laboratory department, Johns Hopkins Aramco HealthCare (JHAH), Alahsa.
Aamer Aleem
Genomic Medicine & Oncology/Hematology Group (GeM-On-Hem) & Quality Assurance and Accreditation Unit (QAAA), CoAMS-A, King Saud Bin Abdulaziz University for Health Sciences
Zafar Iqbal
Genomic Medicine & Oncology/Hematology Group (GeM-On-Hem) & Quality Assurance and Accreditation Unit (QAAA), CoAMS-A, King Saud Bin Abdulaziz University for Health Sciences
How to Cite
INVESTIGATIONS ON CLINICAL VALIDATION OF MUTATED ZNF208 AS A NOVEL BIOMARKER OF BLAST CRISIS IN CHRONIC MYELOID LEUKEMIA. (2024). Journal of Population Therapeutics and Clinical Pharmacology, 31(9), 1502-1518. https://doi.org/10.53555/68zhqm37